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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2896 - 2900
Malan syndrome and Marshall–Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3‐year‐ 6 months‐ old female with clinical... 
Marshall–Smith syndrome | Malan syndrome | missense mutation | NFIX gene | MARSHALL-SMITH-SYNDROME | SOTOS-LIKE OVERGROWTH | NFIX | SEQUENCE VARIANTS | DNA-BINDING/DIMERIZATION DOMAIN | Marshall-Smith syndrome | GENE | GENETICS & HEREDITY | MUTATIONS | DELETIONS | Radiography | Phenotypes | Mutation | Nfix gene | Genotypes
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 2017, Volume 145, Issue April, pp. 471 - 478
Journal Article
Indian Pediatrics, ISSN 0019-6061, 12/2015, Volume 52, Issue 12, pp. 1025 - 1026
Journal Article
European journal of medical genetics, ISSN 1769-7212, 09/2019, p. 103756
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with... 
Journal Article
Indian Journal of Radiology and Imaging, ISSN 0971-3026, 01/2017, Volume 27, Issue 1, pp. 59 - 61
Fetal intraabdominal umbilical vein varix (FIUV) is focal dilatation of the intrabdominalumbilical vein of thefetus. It appears as a round or fusiform cystic... 
fetal anomalies | Antenatal ultrasound | umbilical vein varix | trisomy 21 | Usage | Diagnostic imaging | Chromosome abnormalities | Research | Analysis | Varicose veins | Women's Imaging | Antenatal ultrasound; fetal anomalies; trisomy 21; umbilical vein varix
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 1/2019, Volume 86, Issue 1, pp. 44 - 48
Stem cell transplantation and cord blood banking have received much popularity among general public and medical professionals in the recent past. But... 
Pediatrics | Umbilical cord blood banking | Medicine & Public Health | Gynecology | Stem cells | India | PEDIATRICS | THERAPY | College graduates | Medical genetics | Bone marrow | Transplantation | Private banking | Blood banks | Hematopoietic stem cells
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 11/2018, p. 1
Journal Article
Indian pediatrics, 07/2019, Volume 56, Issue 7, p. 603
Vici syndrome is a neurodevelopmental disorder of the autophagy pathway. Almost all cases reported have the cardinal features of agenesis of corpus callosum,... 
Journal Article
Indian pediatrics, 12/2015, Volume 52, Issue 12, p. 1025
Journal Article
Indian pediatrics, 10/2017, Volume 54, Issue 10, p. 879
Balanced translocations are common with the incidence of 1 in 500. Two cousins with intellectual disability with family history of holoprosencephaly.... 
Oligonucleotide Array Sequence Analysis | Pedigree | Humans | Chromosome Disorders - diagnosis | Family | Female | Infant | Cytogenetic Analysis | Chromosome Disorders - genetics | Holoprosencephaly | Translocation, Genetic - genetics
Journal Article
Journal of Clinical Laboratory Analysis, ISSN 0887-8013, 03/2016, Volume 30, Issue 2, pp. 169 - 174
Journal Article
Indian pediatrics, 06/2018, Volume 55, Issue 6, p. 474
To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. Descriptive study. Tertiary-care medical... 
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 3/2016, Volume 83, Issue 3, pp. 238 - 241
Journal Article
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